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rs386833659

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386833659(G;T)
Make rs386833659(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position40078659
GenePPT1
is asnp
is mentioned by
dbSNPrs386833659
ebirs386833659
HLIrs386833659
Exacrs386833659
Varsomers386833659
Maprs386833659
PheGenIrs386833659
hapmaprs386833659
1000 genomesrs386833659
hgdprs386833659
ensemblrs386833659
gopubmedrs386833659
geneviewrs386833659
scholarrs386833659
googlers386833659
pharmgkbrs386833659
gwascentralrs386833659
openSNPrs386833659
23andMers386833659
23andMe allrs386833659
SNP Nexus

SNPshotrs386833659
SNPdbers386833659
MSV3drs386833659
GWAS Ctlgrs386833659
Max Magnitude0
ClinVar
Risk rs386833659(A,T;A,T)
Alt rs386833659(A,T;A,T)
Reference rs386833659(G;G)
Significance Probable-Pathogenic
Disease Ceroid lipofuscinosis neuronal 1
Variation info
Gene PPT1
CLNDBN Ceroid lipofuscinosis neuronal 1
Reversed 1
HGVS NC_000001.10:g.40544331C>A
CLNSRC ClinVar
CLNACC RCV000049619.1,


[PMID 21990111] Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.